| Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 4 | 38691214 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 66949786 | regulatory region variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 5379957 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 4 | 20212158 | intergenic variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 136127444 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 17384070 | downstream gene variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 119043282 | upstream gene variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 154167248 | intron variant | G/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 126348218 | intron variant | C/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 96532204 | intron variant | C/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 141610541 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 113425177 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 27473132 | regulatory region variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 21 | 38931753 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 34274557 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 197287960 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 66282475 | intergenic variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 142302333 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 20777377 | intergenic variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 76326157 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 8 | 94559374 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 60438633 | intron variant | A/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 77917458 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 9 | 16595651 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 14 | 25458973 | intergenic variant | C/A | snv | 0.37 | 0.700 | 1.000 | 7 | 2015 | 2019 |